Document Details

Document Type : Article In Journal 
Document Title :
Massively parallel sequencing of forensic STRs: considerations of the DNA commission of the International Society for Forensic Genetics (ISFG) on minimal nomenclature requirements
Massively parallel sequencing of forensic STRs: considerations of the DNA commission of the International Society for Forensic Genetics (ISFG) on minimal nomenclature requirements
 
Document Language : English 
Abstract : The DNA Commission of the International Society for Forensic Genetics (ISFG) is reviewing factors that need to be considered ahead of the adoption by the forensic community of short tandem repeat (STR) genotyping by massively parallel sequencing (MPS) technologies. MPS produces sequence data that provide a precise description of the repeat allele structure of a STR marker and variants that may reside in the flanking areas of the repeat region. When a STR contains a complex arrangement of repeat motifs, the level of genetic polymorphism revealed by the sequence data can increase substantially. As repeat structures can be complex and include substitutions, insertions, deletions, variable tandem repeat arrangements of multiple nucleotide motifs, and flanking region SNPs, established capillary electrophoresis (CE) allele descriptions must be supplemented by a new system of STR allele nomenclature, which retains backward compatibility with the CE data that currently populate national DNA databases and that will continue to be produced for the coming years. Thus, there is a pressing need to produce a standardized framework for describing complex sequences that enable comparison with currently used repeat allele nomenclature derived from conventional CE systems. It is important to discern three levels of information in hierarchical order (i) the sequence, (ii) the alignment, and (iii) the nomenclature of STR sequence data. We propose a sequence (text) string format the minimal requirement of data storage that laboratories should follow when adopting MPS of STRs. We further discuss the variant annotation and sequence comparison framework necessary to maintain compatibility among established and future data. This system must be easy to use and interpret by the DNA specialist 
ISSN : 1872-4973 
Journal Name : Forensic Science International: Genetics 
Volume : 22 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD 
Article Type : Article 
Added Date : Tuesday, July 11, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Walther ParsonParson, Walther ResearcherDoctorate 
David BallardBallard, David ResearcherDoctorate 
Bruce BudowleBudowle, Bruce ResearcherDoctorate 
John M. ButlerButler, John M. ResearcherDoctorate 
Katherine B. GettingsGettings, Katherine B. ResearcherDoctorate 
Peter GillGill, Peter ResearcherDoctorate 
Leonor GusmãoGusmão, Leonor ResearcherDoctorate 
Douglas R. HaresHares, Douglas R. ResearcherDoctorate 
Jodi A. IrwinIrwin, Jodi A. ResearcherDoctorate 
Jonathan L. KingKing, Jonathan L. ResearcherDoctorate 
Peter de Knijffde Knijff, Peter ResearcherDoctorate 
Niels MorlingMorling, Niels ResearcherDoctorate 
Mechthild PrinzPrinz, Mechthild ResearcherDoctorate 
Peter M. SchneiderSchneider, Peter M. ResearcherDoctorate 
Christophe Van NesteVan Neste, Christophe ResearcherDoctorate 
Sascha WilluweitWilluweit, Sascha ResearcherDoctorate 
Christopher PhillipsPhillips, Christopher ResearcherDoctorate 

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